Canonical Allele Identifier: CA2838155650

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330461C>A , CM000664.2:g.46330461C>A	GRCh38
NC_000002.11:g.46557600C>A , CM000664.1:g.46557600C>A	GRCh37
NC_000002.10:g.46411104C>A	NCBI36
NG_016000.1:g.38060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16412C>A MANE Select	ENSP00000263734.3:n.27-16412C>A
ENST00000263734.4:c.27-16412C>A	ENSP00000263734.3:n.27-16412C>A
ENST00000449347.5:c.27-16412C>A	ENSP00000406137.1:n.27-16412C>A
ENST00000460015.1:n.433-16412C>A
ENST00000467888.5:n.175-16412C>A
NM_001430.4:c.27-16412C>A	NP_001421.2:n.27-16412C>A
XM_011532698.1:c.65+4585C>A	XP_011531000.1:n.65+4585C>A
XR_940055.1:n.2355+5323G>T
XM_011532698.2:c.65+4585C>A	XP_011531000.1:n.65+4585C>A
NM_001430.5:c.27-16412C>A MANE Select	NP_001421.2:n.27-16412C>A